Canonical Allele Identifier: CA1921511059

Gene: POLR3A

Linked Data

• ClinVar Variation Id: 1548958
• ClinVar RCV Id: RCV002180214
• dbSNP Id: rs1847451354
• gnomAD v4: 10-78010010-CACAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78010016_78010020del , CM000672.2:g.78010016_78010020del	GRCh38
NC_000010.10:g.79769774_79769778del , CM000672.1:g.79769774_79769778del	GRCh37
NC_000010.9:g.79439780_79439784del	NCBI36
NG_029648.1:g.24526_24530del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698728.1:n.1222-24_1222-20del
ENST00000698729.1:n.2768-24_2768-20del
ENST00000698730.1:n.2768-24_2768-20del
ENST00000698731.1:c.1502-24_1502-20del	ENSP00000513898.1:n.1502-24_1502-20del
ENST00000698732.1:c.*504-24_*504-20del	ENSP00000513899.1:n.*504-24_*504-20del
ENST00000698733.1:c.*830-24_*830-20del	ENSP00000513900.1:n.*830-24_*830-20del
ENST00000698734.1:c.1643-24_1643-20del	ENSP00000513901.1:n.1643-24_1643-20del
ENST00000698735.1:n.1758-24_1758-20del
ENST00000698736.1:n.1758-24_1758-20del
ENST00000698737.1:n.1758-24_1758-20del
ENST00000698738.1:n.1758-24_1758-20del
ENST00000698739.1:n.1758-24_1758-20del
ENST00000372371.8:c.1643-24_1643-20del MANE Select	ENSP00000361446.3:n.1643-24_1643-20del
ENST00000372371.7:c.1643-24_1643-20del	ENSP00000361446.3:n.1643-24_1643-20del
ENST00000473588.2:c.445-24_445-20del
NM_007055.3:c.1643-24_1643-20del	NP_008986.2:n.1643-24_1643-20del
NM_007055.4:c.1643-24_1643-20del MANE Select	NP_008986.2:n.1643-24_1643-20del